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gorlin-syndrome
Gorlin Syndrome
Gorlin syndrome (NBCCS) is caused by germline PTCH1 (~85%) or SUFU (~2%) mutations; multiple BCCs, odontogenic keratocysts, calcified falx cerebri, medulloblastoma (~5%); radiation avoidance is critical; vismodegib FDA-approved to reduce BCC burden in Gorlin patients.
Entry Metadata
| Field | Value |
|---|---|
| ID | gorlin-syndrome |
| Name | Gorlin Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
connects-toSufu
connects-toPtch1
connects-toSmo
connects-toBasal Cell Carcinoma
connects-toMedulloblastoma
connects-toVegf
connects-toSkin
connects-toFibroblast
connects-toP53
connects-toRhabdomyosarcoma
connects-toMeningioma
connects-toOsteoblast
connects-toCardiomyocyte
connects-toLi Fraumeni Syndrome
connects-toNeurofibromatosis Type 1
connects-toOvarian Cancer
connects-toPhoton
connects-toWnt Beta Catenin
connects-toEye
connects-toIntegumentary System
connects-toMusculoskeletal System
connects-toNervous System
connects-toCalcium
connects-toReproductive System
connects-toBrain
connects-toMycn
connects-toMtor
connects-toRegulatory T Cell
connects-toNf Kb
connects-toMacrophage
connects-toOxygen
connects-toHeart
connects-toFibrosis
connects-toPhosphorus
connects-toNeuron
connects-toCyclin D1
connects-toLarge Intestine
connects-toElectron
connects-toBone Marrow
connects-toLung
connects-toAntibody
connects-toCollagen
connects-toStomach
connects-toAkt
connects-toOsteoclast
connects-toT Cytotoxic Cell
connects-toBcl 2
connects-toEndothelial Cell
connects-toCowden Syndrome
connects-toCdkn2A
connects-toHeart Failure
connects-toProton
connects-toStat3
connects-toSepsis
connects-toAutism Spectrum Disorder
connects-toWound Healing
connects-toMajor Depressive Disorder
connects-toVenous Thromboembolism
connects-toEpilepsy
connects-toAspergillus Fumigatus
connects-toGeneralized Anxiety Disorder
connects-toDigestive System
connects-toEndocrine System
connects-toCardiovascular System
connects-toRespiratory System
connects-toRenal System
connects-toLymphatic System
connects-toDicer1 Syndrome
connects-toBirt Hogg Dube Syndrome
connects-toTuberous Sclerosis Complex
connects-toTargeted Therapy
connects-toCortical Bone
connects-toCancer Chemotherapy
connects-toCheckpoint Inhibitors
connects-toMelanoma
connects-toPeutz Jeghers Syndrome
connects-toFap
connects-toMyocardium
connects-toCarney Complex
connects-toBloom Syndrome
connects-toHippocampus
connects-toWerner Syndrome
connects-toNotch
connects-toYap1
connects-toPten
connects-toMyc
connects-toEzh2
connects-toHif 1Alpha
connects-toPdgf
connects-toErk1 2
connects-toIgf 1
connects-toCaspase 3
connects-toRb1
connects-toEgfr
connects-toCalcium
connects-toPerforin
connects-toRankl
connects-toCdk4 6
connects-toE2F1
connects-toPik3Ca
connects-toKras
connects-toNfe2L2
connects-toIl 6
connects-toJak1 2
connects-toTgf Beta
connects-toGalectin 3
connects-toStat1
connects-toCgas Sting
connects-toFoxo
connects-toGsk 3B
connects-toMdm2
connects-toS100A8 A9
connects-toSrc Kinase
connects-toDnmt3A
connects-toAutophagy
connects-toAmpk
connects-toCcr5
connects-toArid1A
connects-toCxcl12
connects-toIl 1B
connects-toIl 33
connects-toIl 17A
connects-toComplement C3
connects-toCalcineurin
connects-toMhc Class Ii
connects-toPd 1
connects-toAxl Receptor
connects-toIl 10
connects-toTroponin Complex
connects-toNitric Oxide
connects-toCholesterol
connects-toXanthine Oxidase
connects-toIl 4
connects-toIl 13
connects-toCopper
connects-toProstaglandins
connects-toZinc
connects-toSelenium
connects-toLeptin
connects-toAdiponectin
connects-toResistin
connects-toDendritic Cell
connects-toIfn Gamma
connects-toIl 12
connects-toType I Interferon
connects-toIl 5
connects-toIl 23
connects-toIge
connects-toMast Cell
connects-toT Helper Cell
connects-toC5Ar1
connects-toComplement C5
connects-toFactor H
connects-toTransferrin
connects-toTslp
connects-toBradykinin
connects-toErythropoietin
connects-toHistamine
connects-toMelatonin
connects-toTestosterone
connects-toProlactin
connects-toOxytocin
connects-toVasopressin
connects-toSerotonin
connects-toIodine
connects-toSodium
connects-toMagnesium
connects-toPotassium
connects-toIron
connects-toChloride
connects-toSulfur
connects-toNitrogen
connects-toCarbon
connects-toHydrogen
connects-toPd 1
connects-toGlp 1
connects-toAngiotensin Ii
connects-toSmad4
connects-toIl 2
connects-toFibronectin
connects-toActivin A
connects-toCgrp
connects-toCalcitonin
connects-toSubstance P
connects-toInsulin Receptor
connects-toAldosterone
connects-toAndrogen Receptor
connects-toNorepinephrine
connects-toAdrenomedullin
connects-toBdnf
connects-toOsteopontin
connects-toFgfr
connects-toEpinephrine
Sources
- Hahn H, Wicking C, Zaphiropoulos PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85(6):841-851. · PubMed 8681379
- Bree AF, Shah MR; BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011;155A(9):2091-2097. · PubMed 21834026